Autism

SNPs or haplotypes that have been reported to be associated with autism include:

A SNP in chromosomal region 5p15, rs10513025, for which the rarer allele is associated with reduced risk for autism, based on a large study of over 1,500 cases from over 1,000 families.10.1038/nature08490

A deletion or duplication of a section of chromosome 16 appears to account for ~1% of de novo cases of autism. The 593kb region spans from ~29.5-30.1M on ch16. 10.1056/NEJMoa075974

Certain mtDNA haplogroups are reported to have higher autism incidence; "relative to the most common European haplogroup HHV, European haplogroups I, J, K, O-X, T, and U were associated with increased risk of ASD, as were Asian and Native American haplogroups A and M, with odds ratios ranging from 1.55 (95% CI, 1.16-2.06) to 2.18 (95% CI, 1.59-3) (adjusted P < .04)" [PMID 28832883]

Researchers re-introduced a fully functional version of the MECP2 gene into mice that had been born with damaged MECP2 genes. Contrary to their expectations, the mice improved. In the article's words, 'restoration of fully functional MECP2 over a four week period eradicated tremors and normalized breathing, mobility and gait in mice that had previously been fully symptomatic and, in some cases, only days away from death.' The ramifications for people suffering from Rett Syndrome are obvious, but mutations of the MECP2 gene are also believed to be the cause of 'classic' autism, and a number of other neurological disorders." [2]